The research team have put hundreds of hours in since our last meeting and as for an answer a name? we are a little closer, (although not much).
The trio of exome sequencing has indeed begun and a complex three page report informs our professor
that Piper has three different genes to our 22,000, those variants are made up of thousands more, finding the answer to this complex puzzle seems unlikely and as we again feel a little defeated we continue to cling to our hope.
Pipes began the appointment
quite happy, a drop seizure then crept, taking hold and a moment to recover, this is a new presentation of seizure for piper and I guess beneficial that professor Scheffer should see it.
However this was not part of our plan, we were there for bragging
rights, look at our happy, smiling girl who now fixes and follows, rolls and smiles, lifts her head and vocalizes, who interacts with interest as never before!
We went on to tell Ingrid of our wonderful achievements of the past few weeks how Piper had
how other people too had noticed this positive change.
We placed Pipes on the floor to show her new found strength, and just as we'd hoped Piper rolled and smiled and lifted her head, even giving Ingrid that.. your someone new face, that
happy giddy with excitement face! :)
We prayed with all our heart for Ingrid to say something different from our last conversation.... perhaps along the lines of..I may have been wrong about Pipers future, she really is looking fantastic! It was instead
another wake up call.
" it's wonderful she's having those happy moments and days, allowing her to interact better with you and reach small milestones" she said, then went on to say "it's all about giving Piper the best quality of life, the most enjoyment
in life with her parents and her sister".
I guess being with Piper each day and knowing Piper for herself, it becomes easy to forget what most four year olds can do, or should do. We sometimes think she's really not that bad, and one day she will catch
up! I think Ingrids harsh reality again left us with that wake up call.
It was, as always a most valuable appointment with our research Professor, we very much appreciate the amazing work into rare disorders by both the Australian and overseas doctors
and scientists, it's just a shame as with most forms of research that time is not on our side.
As we sat in our professors waiting room a young boy walked in, first he sat across from us and then slowly worked his way to our side, he sneakily
glanced at Piper on my lap and covered his eyes with a chuckle, I looked at him and smiled, he then pointed to Pipers feet "no shoes" he laughed!.
"No" I smiled "Piper doesn't walk she doesn't need shoes :) "
he laughed again "does Piper like smurfs"?
"Piper loves surfs! I love smurfs! I replied
"can I touch piper" he asked reaching for her hand
"Piper would love to hold your hand"
it was at that moment the young boys mother came over with an apologetic look on her face for the
she then knelt down introduced herself, her son and kindly informed us of her sons condition, allowed me to ask questions and then Listened and sympathised with our story.
The way she explained her sons syndrome, the chromosomes
effected and hemisphere it was located, the way in which this mother reeled off her childs medical data blew me away.
Her son is 15, she has obviously had a long time to study every precious piece of data relating to his condition.
"it's a different
dynamic isn't it" she said
" we just push through each day as best we can" and together we shared a smile.
On leaving the waiting room we said goodbye to our new 15 year old friend, his mother and his Carer and there was that brief acknowledgement
of I know what you are going through, and I thanked her for coming over to me, that small action left me feeling not quite so alone.
We left today with a referral to Melbourne's Very Special Kids hospice. Advised to wheel Piper around for a look
at the facilities and a chance to meet with staff.
We often feel we don't quite fit anywhere within the world of disability, they at VSK understand this, they sympathize with the difficulties of the rare Undiagnosed child, and are able to continue to
support the child for their needs and outlook rather than diagnosis.
The complex and severe child has the support of nurses, doctors, therapist carers and volunteers, while family supports are also in place.
The focus is not only for the ill child,
often hosting sibling days where children are spoilt with adventure and fun, able to talk to other children in similar situations, helping our little ones to understand their normal is really not theirs alone, for there are other children who understand the
long hospital stays, the separation from family, sitting quietly in doctors appointments, listening to the long conversations of mum and dad,
the long hours, focus and attention of the unwell child or of the computer screen as parents sit searching for
answers, treatments and a connection in stories.
They understand the joy of having a parents attention to themselves, while they too appreciate their sibling.
The undeniable love and powerful connection they share while they also grieve for what
they can not.
In a sense not a lot has changed,
although in our hearts we now understand.
Accepting may take a while longer